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Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)

W Courtens1, S Vroman, J Vandenhove

  • 1Department of Medical Genetics, University Hospital Brugmann, Brussels, Belgium. wcourten@ulb.ac.be

Prenatal Diagnosis
|September 6, 2001
PubMed

Insights

This study details two cases of partial trisomy 7q, a rare genetic condition. One patient presents as the first reported instance of pure trisomy 7q21/22-->qter, expanding knowledge of this chromosomal abnormality.

Area of Science:

  • Genetics
  • Medical Genetics
  • Developmental Biology

Background:

  • Partial trisomy 7q is a rare chromosomal abnormality resulting from translocations.
  • Understanding the phenotypic spectrum associated with trisomy 7q is crucial for genetic counseling and diagnosis.

Observation:

  • Two cases of partial trisomy 7q21-->qter due to familial translocations are presented: a fetus and a newborn.
  • The fetus exhibited dysmorphic features, cleft palate, great vessel anomalies, intestinal malrotation, and uterus bicornis.
  • The newborn presented with minor anomalies, cleft palate, cerebellar hypoplasia, and anomalies of the pancreas, gall bladder, and appendix.

Findings:

  • The study reviews three previously reported fetuses with partial trisomy 7q.
  • A duplication 7q21-->qter has been described in 11 patients, all with concurrent partial monosomy.
  • Patient 1 is the first reported case of pure trisomy 7q21/22-->qter, offering a unique opportunity to study this specific genetic imbalance.

Implications:

  • This research contributes to the understanding of the clinical features associated with trisomy 7q duplications.
  • The findings highlight the variability in phenotypic expression of partial trisomy 7q.
  • The identification of a pure trisomy 7q21/22-->qter case provides valuable data for genotype-phenotype correlation in chromosomal disorders.

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